GTR Home > Conditions/Phenotypes > Charcot-Marie-Tooth disease, type IC

Disease characteristics

Excerpted from the GeneReview: Charcot-Marie-Tooth Neuropathy Type 1
Charcot-Marie-Tooth neuropathy type 1 (CMT1) is a demyelinating peripheral neuropathy characterized by distal muscle weakness and atrophy, sensory loss, and slow nerve conduction velocity. It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop. Affected individuals usually become symptomatic between age five and 25 years. Fewer than 5% of individuals become wheelchair dependent. Life span is not shortened.

Available tests

25 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

Clinical features

Help
  • Hyporeflexia
  • Distal muscle weakness
  • Hypertrophic nerve changes
  • Distal sensory impairment
  • Segmental peripheral demyelination/remyelination
  • Onion bulb formation
  • Pes cavus
  • Decreased motor nerve conduction velocity
  • Distal amyotrophy
Show all (9)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk